Original variant in UCSC shows different base for SHANK3
Created by: mbelmadani
I was trying to convert the variant NM_033517.1:c.3630dup
to genomic coordinates:
https://mutalyzer.nl/name-checker?description=NM_033517.1%28SHANK3_v001%29%3Ac.3630dup
The duplication even looks like this:
CCTGCAGCGGCCAGCTGGCCTCATC - GTTGTGCACGCCACCAGCAACGGGC
CCTGCAGCGGCCAGCTGGCCTCATC C GTTGTGCACGCCACCAGCAACGG
But when I click "View original variant in UCSC Genome Browser, I get an A
as the reference position. The rest of the bases prior to that position also do not match the string with the insertion mentionned above.
I also compared using TransVar and I get a duplication of A
consistent with UCSC (chr22:g.51159928dupA/c.3630_3630dup/p.G1211Rfs*510
)
Am I missing something obvious (or subtle) that would explain why mutalyzer believes it's an insertion of C
and not A
?